Rs1799889

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is asnp
is mentioned by
dbSNPrs1799889
hapmaprs1799889
hgdprs1799889
ensemblrs1799889
gopubmedrs1799889
scholarrs1799889
googlers1799889
pharmgkbrs1799889
hgvbaseg2prs1799889
medrefsnprs1799889
23andMers1799889
SNP Nexus

GeneSERPINE1
Chromosome7
Orientationplus
Position100556429
GenotypeEffect
rs1799889(-;-)MI risk
rs1799889(-;G)MI risk?
rs1799889(G;G)risk for aneurysms?


Genotypes Magnitude Summary
Rs1799889(-;-) MI risk
Rs1799889(-;G) MI risk?
Rs1799889(G;G) risk for aneurysms?

rs1799889 is an insertion/deletion polymorphism in the promoter region of the SERPINE1 gene, which is also known as plasminogen activator inhibitor type 1 (or PAI1 or PAI-1). [There are several entries in dbSNP covering this same position; the one here in SNPedia is the one with population frequency.] The most common allele has a run of 5 G's in the area around this SNP, and in the literature the allele is commonly called the 5G allele. A deletion of one nucleotide leads to the "4G" allele, i.e. rs1799889(-).

The 4G allele has been reported to increase risk for atherosclerosis and coronary artery disease [PMID 9484978]; on the other hand, the 5G allele may increase the risk for abdominal aortic aneurysms.[PMID 10805895]

In combination with the A2 allele of the ITGB3 gene, rs5918, the increased risk of myocardial infarction in a Finnish study population was 4 fold higher (odds ratio = 4.5, p=0.001), particularly in males (odds ratio = 6.4, p=0.0005) [PMID 9700201].

  • related to PLASMINOGEN ACTIVATOR INHIBITOR POLYMORPHISM according to omim 173360.0002
Neighborrs1799762
Distance2